Recommended Guidelines for Validation, Quality Control, and Reporting of TP53 Variants in Clinical Practice
Accurate assessment of TP53 gene status in sporadic tumors and in the germline of
individuals at high risk of cancer due to Li–Fraumeni Syndrome (LFS) has important clinical …
individuals at high risk of cancer due to Li–Fraumeni Syndrome (LFS) has important clinical …
The inherited p53 mutation in the Brazilian population
A common criticism of studying rare diseases is the often-limited relevance of the findings to
human health. Here, we review∼ 15 years of research into an unusual germline TP53 …
human health. Here, we review∼ 15 years of research into an unusual germline TP53 …
AI-guided identification of risk variants for adrenocortical tumours in TP53 p. R337H carrier children: a genetic association study
Background Adrenocortical tumours (ACT) in children are part of the Li-Fraumeni cancer
spectrum and are frequently associated with a germline TP53 pathogenic variant. TP53 p …
spectrum and are frequently associated with a germline TP53 pathogenic variant. TP53 p …
Frequency of the TP53 p.R337H mutation in a Brazilian cohort of pediatric patients with solid tumors
Abstract TP53 p. R337H germline mutation is highly prevalent in the Southern region of
Brazil. We sought to investigate TP53 p. R337H mutation in pediatric tumor samples from a …
Brazil. We sought to investigate TP53 p. R337H mutation in pediatric tumor samples from a …
Perfil de mutações germinativas em pacientes submetidas a aconselhamento genético para câncer hereditário de mama, ovário e endométrio, em Minas Gerais …
CM de Carvalho - 2020 - repositorio.ufmg.br
RESUMO A maioria dos cânceres ginecológicos são esporádicos, mas cerca de 5 a 10%
dos casos tem um padrão hereditário. Destes, grande parte apresentam uma mutação …
dos casos tem um padrão hereditário. Destes, grande parte apresentam uma mutação …
Aspectos clínicos e laboratoriais do carcinoma de suprarrenal na criança: estudo longitudinal no Hospital das Clínicas da UFMG
NML Monteiro - 2016 - repositorio.ufmg.br
O carcinoma de suprarrenal (CSR) é um tumor raro, com comportamento clínico
heterogêneo e prognóstico geralmente ruim. Representa 0, 2% das neoplasias malignas …
heterogêneo e prognóstico geralmente ruim. Representa 0, 2% das neoplasias malignas …